Variant (rsID / SNP)
rs193922500
rs193922500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,188,852. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117188852
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)
- Allele change
- Missense_V456A
Associated conditions / phenotypes
Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Congenital bilateral aplasia of vas deferens from CFTR mutation
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.